Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1183365192
rs1183365192
RET
4 0.851 0.160 10 43106550 missense variant C/T snv 7.0E-06 0.010 1.000 1 1997 1997
dbSNP: rs36119840
rs36119840
6 0.807 0.280 5 37816010 missense variant G/A snv 2.3E-03 2.7E-03 0.010 1.000 1 1997 1997
dbSNP: rs377767405
rs377767405
RET
5 0.827 0.120 10 43114489 missense variant G/A;C;T snv 0.010 1.000 1 1998 1998
dbSNP: rs377767430
rs377767430
RET
3 0.882 0.080 10 43120192 missense variant A/C;G snv 0.010 1.000 1 1998 1998
dbSNP: rs79661516
rs79661516
RET
3 0.882 0.080 10 43105018 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs397516444
rs397516444
VHL
3 0.882 0.200 3 10149808 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1188254133
rs1188254133
4 0.851 0.240 6 43781990 missense variant T/G snv 7.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1400537035
rs1400537035
3 0.882 0.200 7 101131931 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
dbSNP: rs5030824
rs5030824
VHL
9 0.776 0.320 3 10149885 missense variant C/G snv 2.0E-05 4.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs104893824
rs104893824
VHL
8 0.776 0.320 3 10142181 missense variant T/A;C snv 0.020 1.000 2 1999 2003
dbSNP: rs1416313401
rs1416313401
5 0.827 0.160 8 109578004 missense variant A/G snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs5030809
rs5030809
VHL
10 0.776 0.320 3 10142139 missense variant T/C snv 1.3E-05 0.010 1.000 1 2003 2003
dbSNP: rs876659313
rs876659313
VHL
2 0.925 0.080 3 10146624 missense variant A/C;G snv 0.010 < 0.001 1 2003 2003
dbSNP: rs1420960657
rs1420960657
4 0.851 0.080 11 112093192 missense variant A/G snv 0.010 1.000 1 2004 2004
dbSNP: rs76262710
rs76262710
RET
17 0.724 0.280 10 43113648 missense variant T/A;C;G snv 4.0E-06; 4.0E-06 0.020 1.000 2 1997 2005
dbSNP: rs121913308
rs121913308
RET
6 0.827 0.120 10 43114492 missense variant A/C;G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs377767402
rs377767402
RET
4 0.882 0.120 10 43113663 missense variant G/A snv 2.4E-05 2.8E-05 0.010 1.000 1 2005 2005
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs55846256
rs55846256
RET
4 0.882 0.120 10 43114493 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2005 2005
dbSNP: rs1060503770
rs1060503770
5 0.851 0.200 11 112094815 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs5030827
rs5030827
VHL
4 0.882 0.200 3 10142097 missense variant G/A;C;T snv 4.4E-06 0.010 1.000 1 2006 2006
dbSNP: rs78014899
rs78014899
RET
12 0.742 0.160 10 43118392 missense variant G/A;C;T snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs79781594
rs79781594
RET
16 0.732 0.160 10 43113649 missense variant G/A;C;T snv 0.020 1.000 2 2005 2007
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.010 1.000 1 2007 2007
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.030 1.000 3 2005 2008